Mutagenetix > Incidental Mutation

Incidental Mutation 'R8956:Tor1aip1'

720335

Institutional Source

Beutler Lab

Gene Symbol

Tor1aip1

Ensembl Gene

ENSMUSG00000026466

Gene Name

torsin A interacting protein 1

Synonyms

LAP1

MMRRC Submission

068792-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155880345-155912226 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 155909582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027738] [ENSMUST00000097527] [ENSMUST00000111754] [ENSMUST00000111757] [ENSMUST00000128941] [ENSMUST00000130995] [ENSMUST00000133152] [ENSMUST00000136331] [ENSMUST00000136397] [ENSMUST00000141878] [ENSMUST00000169241]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027738

SMART Domains

Protein: ENSMUSP00000027738
Gene: ENSMUSG00000026466

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC
Pfam:LAP1C	122	265	9.1e-36	PFAM
Pfam:LAP1C	257	520	6.7e-171	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097527

SMART Domains

Protein: ENSMUSP00000095134
Gene: ENSMUSG00000026466

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC
low complexity region	149	167	N/A	INTRINSIC
Pfam:LAP1C	244	576	1.9e-165	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111754

Predicted Effect

probably benign
Transcript: ENSMUST00000111757

SMART Domains

Protein: ENSMUSP00000107387
Gene: ENSMUSG00000050565

Domain	Start	End	E-Value	Type
Pfam:LAP1C	26	501	3.9e-169	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120602
Gene: ENSMUSG00000026466
AA Change: H99L

Domain	Start	End	E-Value	Type
Pfam:LAP1C	1	59	4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128941

Predicted Effect

probably benign
Transcript: ENSMUST00000130995

SMART Domains

Protein: ENSMUSP00000141619
Gene: ENSMUSG00000026466

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC
Pfam:LAP1C	122	273	3.8e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133152

Predicted Effect

probably benign
Transcript: ENSMUST00000136331

SMART Domains

Protein: ENSMUSP00000137617
Gene: ENSMUSG00000026466

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC
Pfam:LAP1C	122	283	8.4e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136397

SMART Domains

Protein: ENSMUSP00000118654
Gene: ENSMUSG00000026466

Domain	Start	End	E-Value	Type
Pfam:LAP1C	1	77	5.6e-15	PFAM
Pfam:LAP1C	74	190	5.7e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141878

SMART Domains

Protein: ENSMUSP00000123391
Gene: ENSMUSG00000026466

Domain	Start	End	E-Value	Type
Pfam:LAP1C	1	176	1.4e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169241

SMART Domains

Protein: ENSMUSP00000126751
Gene: ENSMUSG00000026466

Domain	Start	End	E-Value	Type
Pfam:LAP1C	1	77	1.6e-14	PFAM
Pfam:LAP1C	75	391	2.4e-195	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (87/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit perinatal lethality and nuclear membrane blebs in neural and nonneural tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	C	T	7: 78,750,713 (GRCm39)	T1828I	probably benign	Het
Acsf2	A	G	11: 94,461,211 (GRCm39)	S322P	probably benign	Het
Acss2	T	A	2: 155,391,438 (GRCm39)	I170N	probably damaging	Het
Adam22	G	A	5: 8,142,343 (GRCm39)	T814I	probably damaging	Het
Agrn	G	T	4: 156,250,995 (GRCm39)	D1914E	probably damaging	Het
Akap6	T	C	12: 53,187,127 (GRCm39)	S1514P	probably benign	Het
Akap9	T	C	5: 3,998,805 (GRCm39)	L58P	possibly damaging	Het
Apof	A	G	10: 128,105,712 (GRCm39)	I289V	probably benign	Het
Arhgap35	G	A	7: 16,348,404 (GRCm39)		probably benign	Het
Atad3a	A	C	4: 155,838,054 (GRCm39)	F239L	probably damaging	Het
Atf6	T	C	1: 170,621,576 (GRCm39)	T482A	probably damaging	Het
Atg9b	T	C	5: 24,591,850 (GRCm39)		probably benign	Het
Atp8b4	T	A	2: 126,167,327 (GRCm39)		probably null	Het
B4galt5	T	C	2: 167,143,260 (GRCm39)	Y388C	probably damaging	Het
Bahd1	T	C	2: 118,749,689 (GRCm39)	L495P	probably damaging	Het
Bcl6	T	C	16: 23,793,716 (GRCm39)	E77G	probably damaging	Het
Bst1	C	A	5: 43,982,716 (GRCm39)	S187*	probably null	Het
Car4	A	G	11: 84,855,377 (GRCm39)	N170S	probably null	Het
Cdk14	A	T	5: 5,277,182 (GRCm39)	V131E	probably damaging	Het
Cdk4	T	A	10: 126,900,546 (GRCm39)		probably benign	Het
Cebpe	T	C	14: 54,949,121 (GRCm39)	R99G	probably damaging	Het
Col9a1	G	A	1: 24,276,300 (GRCm39)	G736D	probably damaging	Het
Copa	T	A	1: 171,937,480 (GRCm39)	V477D	possibly damaging	Het
Coq9	G	A	8: 95,576,886 (GRCm39)	G166D	probably benign	Het
Cttnbp2	A	T	6: 18,434,165 (GRCm39)	N564K	possibly damaging	Het
Dgkq	T	C	5: 108,798,095 (GRCm39)	N721S	probably benign	Het
Dnhd1	A	T	7: 105,341,852 (GRCm39)	Y1217F	probably damaging	Het
Eef1akmt4	G	T	16: 20,437,398 (GRCm39)	E247*	probably null	Het
Elovl7	A	T	13: 108,393,320 (GRCm39)	I18F	probably benign	Het
Eml5	T	C	12: 98,818,952 (GRCm39)	K785E	possibly damaging	Het
Faap100	C	A	11: 120,268,185 (GRCm39)	C196F	probably damaging	Het
Fat2	G	A	11: 55,173,729 (GRCm39)	T2328M	probably damaging	Het
Gcnt2	T	A	13: 41,041,204 (GRCm39)	I121N	probably benign	Het
Gm12253	A	G	11: 58,327,605 (GRCm39)	K152E	probably benign	Het
Gm16440	T	A	14: 17,574,527 (GRCm39)	R167*	probably null	Het
Gm43302	T	A	5: 105,425,602 (GRCm39)	I276F	possibly damaging	Het
Gys2	A	G	6: 142,374,267 (GRCm39)	S593P	probably damaging	Het
H2-M10.4	T	A	17: 36,772,245 (GRCm39)	N168Y	probably benign	Het
Hpca	C	A	4: 129,012,287 (GRCm39)	R83L	probably damaging	Het
Igkv8-28	A	G	6: 70,121,109 (GRCm39)	F13L	probably benign	Het
Il17ra	A	T	6: 120,458,465 (GRCm39)	I539F	probably damaging	Het
Kdm4a	A	G	4: 118,019,013 (GRCm39)	V401A	possibly damaging	Het
Krt86	A	T	15: 101,375,157 (GRCm39)	T351S	probably benign	Het
Lig4	A	G	8: 10,021,378 (GRCm39)	C801R	probably benign	Het
Lrrn4	G	A	2: 132,714,011 (GRCm39)	P312S	probably damaging	Het
Macf1	T	A	4: 123,368,641 (GRCm39)	H2040L	probably benign	Het
Madcam1	A	G	10: 79,502,466 (GRCm39)	K317E	possibly damaging	Het
Maip1	T	C	1: 57,450,961 (GRCm39)	I201T	probably damaging	Het
Map4k4	C	A	1: 40,039,840 (GRCm39)	D513E	probably benign	Het
Mideas	T	A	12: 84,209,102 (GRCm39)	I667L	probably benign	Het
Mpped1	G	A	15: 83,740,469 (GRCm39)	G137R	probably damaging	Het
Mrgprd	T	G	7: 144,875,923 (GRCm39)	F265V	probably benign	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Mylk	A	G	16: 34,791,779 (GRCm39)	T1484A	probably benign	Het
Nbas	C	T	12: 13,482,923 (GRCm39)	S1400L	possibly damaging	Het
Nedd4	T	A	9: 72,633,708 (GRCm39)	S405T	probably benign	Het
Neil2	A	G	14: 63,429,227 (GRCm39)	V22A	probably damaging	Het
Nrip1	G	C	16: 76,089,193 (GRCm39)	A788G	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or10ab4	A	G	7: 107,655,160 (GRCm39)	T324A	probably benign	Het
Or10d4c	C	T	9: 39,558,496 (GRCm39)	T158I	probably damaging	Het
Or2b7	T	C	13: 21,740,169 (GRCm39)	I8V	probably benign	Het
Or2bd2	G	A	7: 6,442,020 (GRCm39)		probably benign	Het
Or2r2	T	A	6: 42,463,830 (GRCm39)	Q99L	probably damaging	Het
Or6c215	C	T	10: 129,638,222 (GRCm39)	M57I	possibly damaging	Het
Orc2	T	C	1: 58,505,221 (GRCm39)	N478S	probably damaging	Het
Oxct1	A	G	15: 4,064,806 (GRCm39)	E48G	possibly damaging	Het
Pcca	A	G	14: 122,975,324 (GRCm39)	I28V	probably benign	Het
Pcdha8	T	C	18: 37,126,241 (GRCm39)	V241A	probably benign	Het
Pgap6	T	A	17: 26,339,374 (GRCm39)	S563T	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkd2	T	A	5: 104,631,090 (GRCm39)	W505R	probably damaging	Het
Plxnc1	C	T	10: 94,746,448 (GRCm39)	V430I	probably benign	Het
Prkd3	A	G	17: 79,278,883 (GRCm39)	M401T	probably damaging	Het
Rgmb	A	G	17: 16,027,748 (GRCm39)	C324R	probably benign	Het
Rsph6a	A	T	7: 18,799,364 (GRCm39)		probably benign	Het
Sclt1	A	T	3: 41,636,209 (GRCm39)	M264K	probably benign	Het
Serhl	T	A	15: 82,985,899 (GRCm39)	V30D	possibly damaging	Het
Sfrp1	T	C	8: 23,902,159 (GRCm39)	V120A	probably damaging	Het
Slc22a8	C	T	19: 8,587,030 (GRCm39)	Q408*	probably null	Het
Slc35b2	A	G	17: 45,877,673 (GRCm39)	T218A	probably damaging	Het
Slco4c1	A	T	1: 96,765,242 (GRCm39)	F403I	probably damaging	Het
Sorbs1	T	A	19: 40,351,660 (GRCm39)	H250L	probably damaging	Het
Sorcs3	T	A	19: 48,737,810 (GRCm39)	C742*	probably null	Het
Tnc	T	C	4: 63,918,970 (GRCm39)	Y1151C	probably damaging	Het
Trim9	T	C	12: 70,393,665 (GRCm39)	Q93R	probably damaging	Het
Tsnaxip1	A	G	8: 106,570,813 (GRCm39)	Y613C	probably damaging	Het
Ttc6	C	T	12: 57,775,196 (GRCm39)	Q1631*	probably null	Het
Ubr5	A	G	15: 38,015,367 (GRCm39)	L881P	probably damaging	Het
Upp2	C	T	2: 58,457,454 (GRCm39)		probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn2r116	A	T	17: 23,605,736 (GRCm39)	D216V	probably damaging	Het
Vps52	A	G	17: 34,177,049 (GRCm39)	Q96R	probably benign	Het

Other mutations in Tor1aip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Tor1aip1	APN	1	155,907,213 (GRCm39)	missense	probably benign	0.01
IGL00837:Tor1aip1	APN	1	155,882,662 (GRCm39)	utr 3 prime	probably benign
IGL02573:Tor1aip1	APN	1	155,889,117 (GRCm39)	missense	probably damaging	0.99
IGL02815:Tor1aip1	APN	1	155,911,662 (GRCm39)	missense	probably damaging	1.00
IGL02964:Tor1aip1	APN	1	155,911,590 (GRCm39)	missense	probably damaging	0.96
IGL03128:Tor1aip1	APN	1	155,882,781 (GRCm39)	missense	probably damaging	1.00
R0100:Tor1aip1	UTSW	1	155,882,821 (GRCm39)	missense	probably damaging	1.00
R0319:Tor1aip1	UTSW	1	155,882,927 (GRCm39)	missense	probably damaging	1.00
R0410:Tor1aip1	UTSW	1	155,911,686 (GRCm39)	missense	possibly damaging	0.85
R0458:Tor1aip1	UTSW	1	155,906,153 (GRCm39)	missense	probably damaging	0.99
R0506:Tor1aip1	UTSW	1	155,883,420 (GRCm39)	nonsense	probably null
R0563:Tor1aip1	UTSW	1	155,911,554 (GRCm39)	missense	probably damaging	1.00
R1696:Tor1aip1	UTSW	1	155,893,262 (GRCm39)	missense	possibly damaging	0.67
R1745:Tor1aip1	UTSW	1	155,906,180 (GRCm39)	splice site	probably null
R1830:Tor1aip1	UTSW	1	155,883,308 (GRCm39)	missense	probably damaging	1.00
R2132:Tor1aip1	UTSW	1	155,883,308 (GRCm39)	missense	probably damaging	1.00
R4487:Tor1aip1	UTSW	1	155,882,870 (GRCm39)	missense	probably damaging	1.00
R5613:Tor1aip1	UTSW	1	155,909,499 (GRCm39)	missense	probably damaging	0.98
R5657:Tor1aip1	UTSW	1	155,883,234 (GRCm39)	missense	probably damaging	1.00
R6123:Tor1aip1	UTSW	1	155,882,951 (GRCm39)	missense	probably damaging	1.00
R6380:Tor1aip1	UTSW	1	155,894,234 (GRCm39)	missense	possibly damaging	0.85
R6647:Tor1aip1	UTSW	1	155,893,999 (GRCm39)	missense	possibly damaging	0.94
R6852:Tor1aip1	UTSW	1	155,911,566 (GRCm39)	missense	probably damaging	0.99
R7354:Tor1aip1	UTSW	1	155,911,859 (GRCm39)	missense	probably damaging	0.98
R7463:Tor1aip1	UTSW	1	155,883,355 (GRCm39)	missense	possibly damaging	0.48
R7615:Tor1aip1	UTSW	1	155,883,330 (GRCm39)	missense	possibly damaging	0.93
R8859:Tor1aip1	UTSW	1	155,907,190 (GRCm39)	missense	probably benign	0.04
R9495:Tor1aip1	UTSW	1	155,906,177 (GRCm39)	missense	probably damaging	1.00
R9514:Tor1aip1	UTSW	1	155,906,177 (GRCm39)	missense	probably damaging	1.00
R9628:Tor1aip1	UTSW	1	155,893,320 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAACTGATAAGACTCACAAACCTCTTG -3'
(R):5'- TCGTAAAGCAACAAGTAGTGGTTTG -3'

Sequencing Primer
(F):5'- GCTGGGATTACAGTCATATGCCAC -3'
(R):5'- TACAGGTAGCCTTGGAAGCC -3'

Posted On

2022-07-20